Varaico: Literature-Extracted Genetic Variants

Gene:TMEM63A
Variant:p.D259delFs

TMEM63A

98 papers

Pfam Domains

RSN1_TMaa 50–214UCSCLate exocytosis, associated with Golgi transport
PHM7_cytaa 227–410UCSCCytosolic domain of 10TM putative phosphate transporter
RSN1_7TMaa 421–693UCSCCalcium-dependent channel, 7TM region, putative phosphate

Gene Aliases

HGNC Name

transmembrane protein 63A

HGNC Previous Symbol

KIAA0792

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_014698.3
p.D259delFs
c.775delC
Surrounding Variants
1 paper
NM_014698.3
p.C255W
c.765T>G
1 paper
NM_014698.3
p.Y252*
c.756T>G
1 paper
NM_014698.3
p.Y252*
c.756T>A
1 paper
NM_014698.3
p.R249Splc
c.747-3C>G
1 paper
NM_014698.3
p.Y324*
c.972C>G
2 papers
NM_014698.3
p.R326W
c.976C>T
1 paper
NM_014698.3
p.M327I
c.981G>C
1 paper
NM_014698.3
p.L347M
c.1039C>A
1 paper
NM_014698.3
p.V352I
c.1054G>A
1 paper
NM_014698.3
p.Y362Splc
c.1086-3C>T
1 paper
NM_014698.3
p.P383S
c.1147C>T
1 paper
NM_014698.3
p.H386H
c.1158T>C
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